• TAP CHI NGHIEN CU'U Y HQC mmune-histochemical analysis. Therefore, these results have important implication for the poten- tial treatment of FTY720 in Scl-cGVHD and SSc m human
Key w o r d s : FTY720, 81P, Systemic sclerosis (SSc), Graft-versus-host disease (GVHD)
HOI CHU'NG CAT-EYE, C H A N DOAN TRU'O'C VA SAU SINH
An Thuy Lan, Dinh Thj H6ng N h u n g , Le Thj L i l u , Ngd D i l m Ngpc Bpnh vidn Nhi Trung wang Hpi chimg Cat-eye ta mpt tmng cdc hpi chimg di truyin hiem gdp. do mang 3 hope 4 doan nhiim sic the 22q11 Ty Ip mde bpnh Id 1/74000 tre de sdng [2] Nghien cii'u nham phat hipn them dopn 22q11 trong hpi chung Cat-eye bdng ky thudt nudi ciy nhiim sSc the (NST) vd ky thupt lai huynh quang t$i chi (FISH) Kit qua cho thiy karyotype cua bpnh nhi- 47.XY,+22, karyotype eua mp bpnh nhi 45,XX, t(11,22) (qter.q13), karyotype cua thai nhi. 46.XY Ky thupt FISH la phwang phdp hipu qua. chinh xac. nhanh chong trong chin dodn xdc dinh HC Cat-eye
Tu khoa: hpi chung Cat-eye
I. OAT
V A NOt
Cat-eye la mot trong cdc hpi chirng di truyin h i i m gap do b i t thudng v l n h i l m s l e t h i Ty 16 m l c 1/ 74000 tre de song [2] Cdc dae d i l m lam sang t h y p n g gap Id chdm phdt t n i n tri tue mue do tir it den trung binh, k6m phdt t r i l n hoang d i l m , thodi hda thi t h i n kmh va m i n g m l t (giong m l t m6o), di tat b I m sinh tim: thong liPn t h I t , thong lien nhT, hep phdi todn bp, thdn chung dPng mach Di tdt hdu m6n true trdng hep hdu mPn, hdu mon n i p [1]
Nhirng nghien ciru ddu tien ve h6i chirng ndy 6 y a c t i i n hanh tir nam 1965, cho 6 i n nam 1981 ngudi ta phat hien ra b i t thudng v l nhilm s i c t h i la nhdn doan mpt viing dao doan mang tdm n h i l m s l e t h i so 22 [mv dup (22)(pter->q11-,q11->pter)],
Bia chi lien he An Thuy Lan - Khoa Di truyen va smh hpc phan /i> - benh vien Nhi Trung uong
Email anthuylan@gmail com
B6nh nhan 6 y a e chan 6odn hpi ehirng Cat-eye co t h i mang 3 hodc 4 doan nhiem s l e t h i 22 d VI tri 22q11 2 (trisomy hodc tetra- somy) [5] Nhirng b i t thudng v i n h i i m s i c t h i nay xudt hien rdt sdm eiia su phdt t n i n bdo thai Nhirng b i t thydng nhilm s i c the ndy cd t h i la nhdn doi tam n h i i m s l e t h i s6 22 hlnh vong hay dirt doan d i u g i n locus AT- P6E va d i u xa locus D22S57 bao qudt tuang irng 2 Mb ciia doan 22q11.2 B i t thudng n h i l m s l e t h i ndy thudng co n g u i n g i c tir me Nghien ciru n h l m muc tieu phat hien them doan 22q11 trong HC Cat-eye bdng ky thudt nu6i c l y n h i l m s l e t h i (NST) vd ky thudt iai huynh quang tai c h i (FISH),
It. D 6 | TU'P'NG VA PHU'aNG PHAP
1. Ddi lu'O'ng
Benh nhi 42 ngay tuoi vdi c h i n 6odn Idm sdng Da dl tat, cP b i i u hien bo mdt b i t
TAP CHi NGHIEN CU'U Y HQC — - B i mp bPnh nhi
- Thai nhi 18 t u i n t u i i cua lan smh con t i i p theo,
Benh p h l m : - 2 0 ml dich 6 i v 6 triing
- 2 - 5 ml mdu ngopi vi v6 triing 6 u p c ehong d6ng b l n g Heparin
2. P h u a n g phdp
Nu6i c l y nhiem s i c t h i t u t l bao 6 i Dich 01 v6 trung d u d c chpc hut d u d i s y hudng ddn cua siPu dm d t u i n thai tir 15 - 1 8 Dich 6i dwac nu6i e l y , trong m6i trudng A m - niomax (Gibco) Sau tir 7 - 10 ngdy t l bdo se du'oc thu hoach Mot p h l n t i bao d u a e tao tieu ban n h i l m s l e t h i , m6t phan 3ieae sir dung lam metaphase FISH
Nudi cay nhiem sac t h i t i f mau ngoai v i T i bao mau ngoai vi d u o c nuPi c l y trong moi trudng RPMI (Gibco) vdi s u eP mat eua
PHA (Sigma) n h l m kich thich s y phdt triin eua t l bdo lympho T. Sau 72h nudi cay, t i bao se 6 y p c thu hoach, Idm ti6u ban NST dupe nhupm bdng b l n g Giemsa (Merk) vd 6uac phdn tieh d u d i kmh hien vi Cdn t i bao ttiu hopeh dupe sau khi nu6i c l y NST dupe sir dyng d i Idm metaphase FISH
Ky t h u a t lai h u y n h q u a n g tai ehd (FISH) v d i ddu d o TUPLE (Vysis)
O l u dp TUPLE ddnh d i u d nhdnh ddi NST 22 doan 22q11 2 va d i u d6 ST (ehirng) danh d i u d tdn ciing nhdnh ddi n h i l m sde the 22 doan 22qter (Vysis) TiPu c h u i n phdt hidn dya vdo cdc tin hi6u cua dau dP Vdi dau dP TU- PLE/ST cho n h i l m sde the 22, trong trudng hap k h i n g c6 b i t t h u d n g n h i l m sde the se t h i hien 2 tin hieu xanh Id tin hi6u k i l m chirng eho n h i l m s l e the 22 vung 22qter. vd 2 tin hieu do ciia vung 22q11
. K^T QUA
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H i n h 1 . N h i l m s l e t h i d d va k i t q u a FISH c i i a b e n h n h i
(1) Nhiem sde t h i do tir mdu ngopi vi [47,XY,+mar], (2) Ket qua FISH Hai n h i l m s i c t h i 22 binh thudng (mot cdp tin hieu xanh vd do) MPt n h i l m sde t h i 22 m l t 6oan 22qter (mot cap tin hieu 36)
TCNCYH 81 (1) - 2013
• TAP CHi NGHI6N CU'U Y HQC
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Hinh 2. Nhi^tn s^c th^ dd cua bd va me benh nhi
(1) N h i l m sac the do cua ngu&i me NST [45,XX),t(11,22)(qter,q13); (2) NhiSm sSc the (16 cua n g u * ! b6 [46,XY1
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Hinh 3. K6t qua xet nghienn nhiem sac the va FISH tie te bao djch oi trong chan doan tru'dc sinh
Nhiim s i c t h i d i tir dich oi [46,XY] (2) K i t qua FISH Hai NST 22 binh thuang (hai cap tin hieu xanh va 36).
Trong hoi chirng Cat-eye e6 t h i mang 3 hodc 4 doan n h i l m s i c t h i 22 d vi tri 22q11 2 (tnsomy hoac tetrasomy), benh nhdn trong nghi6n ciru eiia chimg toi cd k i t qua ePng thirc nhilm s i c t h i 47,XY,+mar, k i t qua xet nghiem FISH xdc dinh marker Id n h i l m s i c t h i so 22 bl m l t doan 22q11 2
B i mp benh nhan 3woe chi dmh Idm cdng thirc nhilm s i c t h i , phat hien t h l y bat thudng tren c6ng thirc n h i l m s l e t h i eua me b6nh
ehirng Cat-eye cP cong thire nhiem sac the eua nguai nam blnh thudng 46,XY, k i t qua FISH CO hlnh anh 2 NST s i 22 binh thudng
Ky thudt FISH d u o c xem Id ti6u ehuan vdng de chan doan trudc vd sau smh hoi ehirng Cat-eye vdi nhieu uu d i l m thdi gian tra k i t qua nhanh, gia thdnh hpp ly IV. BAN LUAN
HPi chirng Cat-eye la mpt benh ly di truyen
TAP CHi NGHIEN Cl>U Y HQC • 4 dopn n h i l m s i c t h i 22 d v i tri 22q11.2, Ty 1$
m l c 1/74000 6ac trung bdi nhO'ng b i t t h u d n g v l mdt, tim mgch, h^u m6n tryc trdng vd tinh trgng chdm phdt t r i l n tmh t h i n v$n dOng [2;
3,41
B6nh nhi 42 ngdy t u i i nghi ngd c h i n dodn hpi chirng Cat-eye vdi cdc ddc d i l m ldm sdng:
bP mdt b i t thudng, h d hdm i c h , ny thjt thira hai b6n tai, t i n thuang vung hodng d i l m , duang vdt ngdn, thodt vj bpn B$nh nhdn dupe Idm sieu dm tim phdt hi6n ed t h i n g liPn nhT l i thir phdt Vdi ede tri6u chii'ng tr6n, b6nh nhdn c6 ehi d|nh Idm cdc x6t nghi6m di truyin xdc dmh e6ng thirc n h i l m s i c t h i Id 47.XY,+del22(q11ter)
X6t nghidm di truyin dupe xem Id ti6u c h u i n vdng de chan dodn h6i chirng Cat-eye
Tren c a s d 66, gia dlnh bpnh nhan 6a duae t u v l n di t r u y i n vd d u a e k h u y i n cdo k i l m tra n h i l m sde do 3e xde 6inh nguon goe eua b i t thudng BP me benh nhi Id nhirng ngudi cP kieu hlnh binh thudng, k i t hdn khong eiing h u y i t thong, hai v a chong dupe chi dmh Idm e6ng thirc n h i l m s i c t h i K i t qua cho thdy me b6nh nhi eo mang b i t thudng v i mat e l u triic n h i l m sde t h i 45,XX,t(11,22) (qter,q13) C h u y i n doan nay co t h i Id dang chuyin doan can b l n g v l vdt lieu di t r u y i n , kh6ng bieu hien ra k i l u hinh nhung mang nguy ca di truyin eac b i t thudng ndy cho t h i he sau
Tren co s d nhirng b i t thudng v i mdt di truyin trong gia dinh b6nh nhi, c h i n dodn trudc sinh 3woe t i l n hanh cho l l n sinh t i i p theo Cde xet nghiem di t r u y i n d u a e Idm tren mdu benh p h l m dich 6i d i u cho k i t qua binh thydng, thai nhi mang cdng thirc n h i l m s i c t h i 46,XY
Tgi khoa di t r u y i n bfenh vi6n Nhi Trung u a n g dd t i l n hdnh sir dung ky thudt FISH Sk c h i n dodn trudc smh vd sau sinh cho hoi chirng Cat-eye, ky thu^t FISH sir dyng probe ddc hi6u cho dogn 22q11 Id tiPu ehuan vang d l c h i n dodn hpi chirng Cat-eye V. KtT LUAN
Ap dyng thdnh c6ng ky thudt FISH phdt hi6n th6m doan 22q11 trong HC Cat-eye trong e h i n dodn t r u d c smh vd sau smh
Ky thudt FISH Id p h u a n g phdp hidu qua, chinh xdc, nhanh chdng trong c h i n dodn xac dmh hpi chirng Cat-eye,.
TAI LIEU THAM KHAO
1. D i n h Thj H o n g N h u n g , Ngd Dilm Ngoc, A n T h u y Lan (2008) Ap dung ky thuat lai huynh quang tai e h l trong phdt hien bat thudng e l u triic nhiem s l e the tai Labo b6nii vipn Nhi Trung u a n g Tap chl nghidn cim y hac, 44(4), 1 4 - 1 9
2. Mary Kugler. R.N et al (2007) Cat-eye syndrome Cause by Genetic defect in etiro- mosome 22 Med Rev
3. P. Voipe (2004). Cat-eye syndrome in a fetus with increased nuchal translueency three-dimensional ultrasound and eehoeardio- graphic evaluation of the fetal phenotype. Ul- trasound Obstet Gynecol, 24, 4 8 5 - 4 8 .
4. Sarar M o h a m e d (2012) Cat-eye syn- drome A mild phenotype vt/ith isolated growth hormone deficiency Curr Pediatr Res, 16 (1), 6 9 - 7 1 .
5. Sintia lole Nogueira Belangero (2009).
Interrupted Aortic Arch Type B m A Patient with Cat Eye Syndrome
TCNCYH 81 (1) - 2013
• • TAP CHI NGHIEN CU'U Y HQC
Summary
CAT EYES SYNDROME: POST AND PRENATAL DIAGNOSIS
Cat-eye syndrome is a genetic disorder due to Chromosome 22 abnormality It is characterized by a constellation of gene malformations. We report a case of neonatal baby male with Cat-eye syndrome (CES) who displayed mild clinical features The cytogenetic stud- ies confirmed the karyotype as 47, XY, +del 22q11 and FISH show three signals of 22q 11 which are consistent with the diagnosis of Cat-eye syndrome Conventional cytogenetics were performed for the parents, the mother's karyotype shows 45, XX, t(11;22)(qter,q13) while the fa- ther's karyotype is normal Prenatal diagnosis were performed for the next baby in this family and there is no karyotype or FISH abnormality found
Keywords: Cat-eye s y n d r o m e
GIA TR! THANG DIEM GENEVA CAI TIEN SO VOI THANG DIEM WELLS TRONG CHAN DOAN TAC MACH PHOI CAP
Hoang Bui H a i ' , Nguyen Tuan Dat^, D 6 Doan L o ' i \ N g u y i n Dat Anh^
' Trwang Oai hoc Y Ha Noi, ^Benh vien Bach Mai Su dung thang diem Wells de tiip can chin doan tae mpch phoi cip (TMP) da dwoc khuyin cao tren toan thi gi&i [3. 7] Tuy dwac su dung rong rai, song thang diem nay cd tinh chu quan, khd quy ehuan Vi thi. thang diim Geneva cai tiin dwac phat tnen cho phep danh gia mpt each khach quan han Muc tieu Gia tri chin doan lie mach phdi cua thang diim Geneva cai tiin co tdt nhw thang diim Wells hay khong'^ Ddi twpng. Chung toi Iwa chpn cdc benh nhan vao cip ciru tai bpnh vien Bach ti/lai co nghi ngo tac mach phdi, dwoe chup MsCT mach phoi v&i muc dich chin doan tac mach phoi Kit qua Tir thang 12/2006 den thdng 3/2012. nghien cuv thu thap dwac 141 benh nhan. trong do co 57 benh nhan chiim ty le 40,4% bi tac mpch phoi Ty le tac mach phdi & 3 nhdm kha ndng lam sang khi danh gia theo thang diim Geneva cat tien va thang diem Wells la twang tw nhau. Do nhpy. dp dpe hipu, gid tri chan doan dwang tinh. gia tn ehin doan am tinh vd dien tich dw&i dw&ng ROC cua hai thang diem la twang duang nhau Kit luan- Hai thang diem Wells va Geneva cai tiin cd gia tn nhw nhau trong chin doan lie mpch phdi cap
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nguy ca tir vong cao Chan 6oan va d i l u tn ^ ^ j - tneu chirng lam sang khong dien hlnh, cdc xet nghiem thong thudng cung khong giup Dia chl lien he Hoang Bui Hai, Bo mon Hdi sue cap cim, c h i n doan xdc dmh [3] Tren t h i gidl, nhllu Tru&ng Dai hoc YHa NOI \\\jQnq ddn c h l n dodn d i u b i t d i u b l n g viec
